view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TFDP1_chr13_113579753_113646473 | 113625605 | TTCAGGCG others(14): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0081 |
2 | 249 | 0.0080 | -21 | c.186 others(38): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113625721 | TTCAGGCG others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(108): Show |
130 | 141 | 0.9220 | -21 | c.186 others(38): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113625790 | CGTCTCTC others(14): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 327 | 0.0031 | -21 | c.186 others(38): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFEB_chr6_41678978_41740608 | 41719904 | TCCTGAGG others(14): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(3): Show |
6 | 404 | 0.0149 | -21 | c.-23 others(40): Show |
TFEB | ENSG00000112561.19 | transcript | ENST00000373033.6 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
TFF2_chr21_42341357_42355994 | 42342752 | CATTATTA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 91 | 0.0220 | -21 | c.*37 others(32): Show |
TFF2 | ENSG00000160181.9 | transcript | ENST00000291526.5 | protein_coding | 3604 | chr21 | TogoVar | |||||||
TFF3_chr21_42306667_42320409 | 42314301 | GCTTATCC others(14): Show |
G | intron_variant | MODIFIER | NA18970.hp2 NA19001.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 4 | 450 | 0.0089 | -21 | c.83- others(34): Show |
TFF3 | ENSG00000160180.17 | transcript | ENST00000518498.3 | protein_coding | 1/2 | chr21 | TogoVar | |||||||
TFG_chr3_100704494_100753964 | 100749961 | CTAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01891.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0134 a0001c0001t0003g0200 a0001c0003t0001g0027 others(14): Show |
22 | 348 | 0.0632 | -21 | c.*14 others(32): Show |
TFG | ENSG00000114354.15 | transcript | ENST00000240851.9 | protein_coding | 998 | chr3 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54114300 | TGCTAAAT others(14): Show |
T | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 428 | 0.0023 | -21 | c.282 others(36): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
TGFB2_chr1_218340336_218449619 | 218369256 | GAAAAAAA others(14): Show |
G | intron_variant | MODIFIER | HG03490.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0079 | a0001c0001t0003g0025 a0001c0001t0079g0268 |
2 | 69 | 0.0290 | -21 | c.346 others(40): Show |
TGFB2 | ENSG00000092969.12 | transcript | ENST00000366930.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TGFB3_chr14_75953097_75986995 | 75970562 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 60 | 0.0167 | -21 | c.646 others(36): Show |
TGFB3 | ENSG00000119699.8 | transcript | ENST00000238682.8 | protein_coding | 3/6 | chr14 | TogoVar | |||||||
TGFBR2_chr3_30601601_30699142 | 30611613 | AAAGAGAA others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0049 others(227): Show |
232 | 388 | 0.5979 | -21 | c.94+ others(36): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30622879 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 33 | 0.0303 | -21 | c.94+ others(38): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGIF2LX_chrX_89916908_89927883 | 89918564 | TTTATTTT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
9 | 239 | 0.0377 | -21 | c.-34 others(32): Show |
TGIF2LX | ENSG00000153779.11 | transcript | ENST00000283891.6 | protein_coding | 3343 | chrX | TogoVar | |||||||
TGM7_chr15_43271271_43307255 | 43305912 | ATTTTCCC others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 342 | 0.0029 | -21 | c.-36 others(32): Show |
TGM7 | ENSG00000159495.8 | transcript | ENST00000452443.3 | protein_coding | 3658 | chr15 | TogoVar | |||||||
TG_chr8_132861958_133139899 | 132910557 | AGCCCTCA others(14): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0098 | 1 | 214 | 0.0047 | -21 | c.400 others(38): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 18/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133055824 | CCAGCAGC others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(102): Show |
a0001a0002a0004others(80): Show | a0001c0112a0002c0005a0004c0003others(85): Show | a0001c0112t0001a0002c0005t0001a0004c0003t0001others(85): Show | a0001c0112t0001g0199 a0002c0005t0001g0037 a0004c0003t0001g0150 others(102): Show |
105 | 160 | 0.6563 | -21 | c.723 others(42): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
THADA_chr2_43225851_43601038 | 43238118 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0181 | 1 | 27 | 0.0370 | -21 | c.529 others(40): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 36/37 | chr2 | TogoVar | |||||||
THAP11_chr16_67837320_67849195 | 67842881 | GCAGCAGC others(14): Show |
G | disruptive_inframe_deletion | MODERATE | NA18951.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0000 | 1 | 284 | 0.0035 | -21 | c.339 others(28): Show |
p.Gln others(13): Show |
THAP11 | ENSG00000168286.3 | transcript | ENST00000303596.3 | protein_coding | 1/1 | 574/1876 | 339/945 | 113/314 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
THAP11_chr16_67837320_67849195 | 67842902 | ACAGCAGC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG03041.hp1 HG03225.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 277 | 0.0108 | -21 | c.366 others(28): Show |
p.Gln others(13): Show |
THAP11 | ENSG00000168286.3 | transcript | ENST00000303596.3 | protein_coding | 1/1 | 601/1876 | 366/945 | 122/314 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
THAP2_chr12_71659301_71685644 | 71681646 | TAAAAAAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(4): Show |
11 | 43 | 0.2558 | -21 | c.*45 others(32): Show |
THAP2 | ENSG00000173451.7 | transcript | ENST00000308086.3 | protein_coding | 1003 | chr12 | TogoVar | |||||||
THAP9_chr4_82895735_82924969 | 82922710 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02965.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0016 | 4 | 5 | 0.8000 | -21 | c.*37 others(32): Show |
THAP9 | ENSG00000168152.13 | transcript | ENST00000302236.10 | protein_coding | 2742 | chr4 | TogoVar | |||||||
THBS4_chr5_80030348_80088287 | 80088214 | CATAAGTG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0121 others(61): Show |
71 | 377 | 0.1883 | -21 | c.*50 others(32): Show |
THBS4 | ENSG00000113296.14 | transcript | ENST00000350881.6 | protein_coding | 4928 | chr5 | TogoVar | |||||||
THRB_chr3_24112153_24499850 | 24113911 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0040a0001c0002t0027 | a0001c0001t0040g0132 a0001c0002t0027g0113 |
2 | 8 | 0.2500 | -21 | c.*89 others(32): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3241 | chr3 | TogoVar | |||||||
THRB_chr3_24112153_24499850 | 24347417 | TACAGAGA others(14): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0088 | 1 | 176 | 0.0057 | -21 | c.-26 others(42): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
THSD4_chr15_71110471_71788383 | 71682884 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0042 a0001c0001t0008g0060 a0001c0001t0011g0028 others(3): Show |
6 | 116 | 0.0517 | -21 | c.135 others(42): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71727544 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 115 | 0.0087 | -21 | c.135 others(39): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
THSD7A_chr7_11365365_11837198 | 11391591 | GGGCAGTG others(14): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02145.hp2 others(21): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0006a0001c0001t0021a0001c0002t0006others(16): Show | a0001c0001t0006g0031 a0001c0001t0006g0144 a0001c0001t0021g0064 others(21): Show |
24 | 178 | 0.1348 | -21 | c.441 others(40): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
THSD7A_chr7_11365365_11837198 | 11459665 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0134 | 1 | 35 | 0.0286 | -21 | c.260 others(38): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 11/27 | chr7 | TogoVar | |||||||
THSD7A_chr7_11365365_11837198 | 11712598 | AGCTATTG others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG03579.hp2 |
a0001a0008a0017 | a0001c0003a0008c0018a0017c0027 | a0001c0003t0060a0008c0018t0037a0017c0027t0003 | a0001c0003t0060g0163 a0008c0018t0037g0033 a0017c0027t0003g0086 |
3 | 178 | 0.0169 | -21 | c.191 others(40): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
THSD7B_chr2_136760545_137682718 | 136765508 | TTCCTCCT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0003a0001c0004t0003a0001c0005t0010others(15): Show | a0001c0001t0003g0081 a0001c0004t0003g0090 a0001c0005t0010g0078 others(15): Show |
18 | 96 | 0.1875 | -21 | c.-21 others(30): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 36 | chr2 | TogoVar | |||||||
THUMPD3_chr3_9358054_9391791 | 9381756 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0005others(1): Show | a0001c0001t0001g0105 a0001c0001t0025g0112 a0001c0002t0005g0038 others(1): Show |
5 | 15 | 0.3333 | -21 | c.112 others(40): Show |
THUMPD3 | ENSG00000134077.16 | transcript | ENST00000452837.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31181756 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02615.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 a0001c0002t0001g0095 a0001c0002t0001g0096 others(2): Show |
5 | 28 | 0.1786 | -21 | c.288 others(38): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 15/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31210727 | AAGAGAAA others(14): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0057 | 1 | 195 | 0.0051 | -21 | c.221 others(38): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 10/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31222699 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0008 | a0008c0019 | a0008c0019t0028 | a0008c0019t0028g0139 | 1 | 209 | 0.0048 | -21 | c.199 others(38): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 8/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31222701 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02976.hp1 NA18522.hp1 |
a0001 | a0001c0007 | a0001c0007t0002a0001c0007t0003 | a0001c0007t0002g0208 a0001c0007t0003g0045 a0001c0007t0003g0047 |
3 | 203 | 0.0148 | -21 | c.199 others(38): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 8/27 | chr21 | TogoVar | |||||||
TIAM1_chr21_31113418_31349261 | 31222703 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0168 | 1 | 194 | 0.0052 | -21 | c.199 others(38): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 8/27 | chr21 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155025820 | AAACACAC others(14): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0011 | a0004c0011t0009 | a0004c0011t0009g0160 | 1 | 222 | 0.0045 | -21 | c.-20 others(42): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155029422 | TATACTAT others(14): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 228 | 0.0044 | -21 | c.-20 others(42): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | chr6 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155114032 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0041 | a0001c0041t0006 | a0001c0041t0006g0076 | 1 | 228 | 0.0044 | -21 | c.-11 others(42): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155205182 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02809.hp2 others(1): Show |
a0001a0002 | a0001c0005a0002c0015 | a0001c0005t0006a0001c0005t0016a0001c0005t0038others(1): Show | a0001c0005t0006g0009 a0001c0005t0016g0190 a0001c0005t0038g0069 others(1): Show |
4 | 6 | 0.6667 | -21 | c.306 others(40): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TIMM9_chr14_58403495_58432531 | 58417555 | AGAGGGAA others(14): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA18981.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0228 |
3 | 376 | 0.0080 | -21 | c.-26 others(38): Show |
TIMM9 | ENSG00000100575.14 | transcript | ENST00000395159.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
TIMMDC1_chr3_119493547_119530090 | 119495225 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03209.hp1 |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0070 a0003c0004t0007g0071 |
2 | 23 | 0.0870 | -21 | c.-35 others(32): Show |
TIMMDC1 | ENSG00000113845.10 | transcript | ENST00000494664.6 | protein_coding | 3321 | chr3 | TogoVar | |||||||
TJP3_chr19_3703384_3755813 | 3718209 | AAAAGTGT others(14): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 HG02818.hp2 others(3): Show |
a0001a0003a0009 | a0001c0012a0001c0031a0003c0003others(2): Show | a0001c0012t0001a0001c0031t0001a0003c0003t0001others(2): Show | a0001c0012t0001g0361 a0001c0012t0001g0363 a0001c0031t0001g0089 others(3): Show |
6 | 321 | 0.0187 | -21 | c.-10 others(38): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
TJP3_chr19_3703384_3755813 | 3718211 | AAGTGTGT others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp2 |
a0005a0023 | a0005c0010a0023c0054 | a0005c0010t0007a0023c0054t0003 | a0005c0010t0007g0085 a0023c0054t0003g0033 |
2 | 321 | 0.0062 | -21 | c.-10 others(38): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
TJP3_chr19_3703384_3755813 | 3724374 | TTTAGTAG others(14): Show |
T | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 396 | 0.0025 | -21 | c.-9- others(36): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
TKTL1_chrX_154290795_154335350 | 154295458 | CGGCACCA others(14): Show |
C | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 270 | 0.0037 | -21 | c.-40 others(30): Show |
TKTL1 | ENSG00000007350.18 | transcript | ENST00000369915.8 | protein_coding | 336 | chrX | TogoVar | |||||||
TKTL1_chrX_154290795_154335350 | 154328545 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02683.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138 a0001c0001t0001g0250 a0001c0001t0002g0160 |
3 | 19 | 0.1579 | -21 | c.161 others(38): Show |
TKTL1 | ENSG00000007350.18 | transcript | ENST00000369915.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TKT_chr3_53219712_53261022 | 53260757 | ACTCCTGG others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 376 | 0.0027 | -21 | c.-48 others(32): Show |
TKT | ENSG00000163931.17 | transcript | ENST00000462138.6 | protein_coding | 4736 | chr3 | TogoVar | |||||||
TLE1_chr9_81578683_81694547 | 81615081 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0007 a0001c0002t0001g0082 |
2 | 34 | 0.0588 | -21 | c.918 others(36): Show |
TLE1 | ENSG00000196781.16 | transcript | ENST00000376499.8 | protein_coding | 11/19 | chr9 | TogoVar | |||||||
TLE4_chr9_79566965_79731882 | 79574607 | ATTAAACT others(14): Show |
A | intron_variant | MODIFIER | NA18989.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0016 | 1 | 256 | 0.0039 | -21 | c.144 others(36): Show |
TLE4 | ENSG00000106829.21 | transcript | ENST00000376552.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |